Author Archives: Iqra Mumal, MSc

A newly identified mutation in the TNXB gene, which leads to the loss of the Tenascin X protein, is associated with the development of classical-like Ehlers-Danlos syndromes (EDS), a rare subtype of EDS, according to a case report. The report, “Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due…

The Ehlers-Danlos Society presented Jameela Jamil, a British actor and activist, with the Patient Advocate of the Year award at its 2019 Global Learning Conference, held recently in Nashville, Tenn. After accepting the honor through a video link, “The Good Place” television series star thanked the society for…

Children with classical Ehlers-Danlos syndrome are more sensitive to diagnostic low-dose radiation that other children, leading to a higher rate of damage to their chromosomes, a study shows. The study, “Genome damage in children with classical Ehlers-Danlos syndrome – An in vivo and in vitro study,” was published in the…

Dancers have a high prevalence of generalized joint hypermobility — a condition in which joints can actively or passively move beyond the expected range, an Australian study shows. The study, “The prevalence of generalized and syndromic hypermobility in elite Australian dancers,” was published in the journal Physical Therapy…

Patients with Ehlers-Danlos syndrome (EDS) with abnormally rapid breathing and pain may be experiencing a diaphragmatic rupture, a situation that requires prompt surgical intervention, according to a new case report. The study, “Spontaneous Diaphragmatic Rupture in Hypermobile Type Ehlers-Danlos Syndrome,” published in the journal Case Reports in Surgery,…

An anonymous $1 million donation gifted to The Ehlers-Danlos Society will be used to establish an international research network committed to understanding the genetic mechanisms behind hypermobile Ehlers-Danlos syndrome (EDS) and hypermobility spectrum disorders. The donation, which represents the single largest in the organization’s 33-year history, will help fund the…

Invasive cardiac procedures in patients with Ehlers-Danlos syndrome (EDS) should be performed with extreme caution and only after a thorough risk/benefit analysis, according to a new case study. The report, “Arrhythmias and myocardial fragility in Ehlers-Danlos syndrome: Complications after routine ICD placement,” was published in the journal HeartRhythm…

Patients with spondylodysplastic Ehlers-Danlos syndrome with a specific mutation in the B4GALT7 gene may show hearing loss and lower limb swelling over other more common symptoms of the disease, such as specific radiographic abnormalities or intellectual disabilities, a case report shows. The report, “Expanding the clinical…

Gastrointestinal (GI) symptoms in patients with hypermobile Ehlers-Danlos syndrome (hEDS) can develop due to a mobile cecum, an abnormality that leads to longstanding abdominal symptoms, according to a new case study. The report, titled “Mobile Cecum in a Young Woman with Ehlers-Danlos Syndrome Hypermobility type: A Case Report and…

Patients with vascular Ehlers-Danlos syndrome (EDS) can, in rare cases, develop cardiomyopathy — a condition affecting the heart muscle — possibly due to mutations in the  COL3A1 gene, according to a new case report. The report, “A case of vascular Ehlers-Danlos Syndrome with a cardiomyopathy and multi-system…